Fig. 1: Distinctions among regional populations based upon UMAP projections of rare exonic variation.
From: Regionally enriched rare deleterious exonic variants in the UK and Ireland
The UMAP projections are computed on the top 20 MDS dimensions discovered based on biallelic, non-singleton and linkage-disequilibrium (LD) pruned known SNPs with MAF < 5% in the considered unrelated individuals. (A) UMAP analysis of all 20 groups in our study illustrating the clear genetic distinction of full AJ, part AJ, Shetland and Orkney individuals from each other and from mainland regions. Despite the careful curation of the genealogical records of the Northern Isles participants, some carry a significant proportion of UK mainland heritage; (B) UMAP analysis focusing on the 16 mainland regions, recapitulating previously known distinctions among Welsh, English, Scottish and Irish regions.
